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This case aims to illustrate the diagnostic challenges of sporadic Creutzfeldt-Jakob disease (sCJD) in younger patients with atypical presentations.

B48-04 From Parkinson’s to Prion: A Rare Case of Creutzfeldt-Jakob Disease

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This case aims to illustrate the diagnostic challenges of sporadic Creutzfeldt-Jakob disease (sCJD) in younger patients with atypical presentations.
Case report of a 55-year-old woman with progressive neurological symptoms after initial misdiagnosis.
Diagnostic imaging, EEG, and lumbar puncture were performed to evaluate disease progression.
CSF biomarkers, including 14-3-3 and total tau protein, were assessed for definitive diagnosis.
Initial symptoms mimicked benign conditions, delaying diagnosis of sCJD.
Posthumous CSF analysis confirmed elevated 14-3-3 (42,389) and total tau (7,194 pg/mL), indicating sCJD.
Timely diagnosis is crucial for prognostication and family preparedness.

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Case presentation reveals challenges in diagnosing sporadic Creutzfeldt-Jakob disease in a young adult, suggesting the need for awareness.

Collins et al. (2026) studied this question.

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Case presentation reveals challenges in diagnosing sporadic Creutzfeldt-Jakob disease in a young adult, suggesting the need for awareness.